HBS1L

GENE INFORMATION

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Gene name

HBS1L (HGNC Symbol)

Synonyms

DKFZp434g247, EF-1a, ERFS, HBS1, HSPC276, KIAA1038

Description

HBS1-like (S. cerevisiae) (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]

Chromosome

6 (Chromosome progress)

Cytoband

q23.3

Chromosome location (bp)

135281516 - 135424194

Ensembl

ENSG00000112339 (version 73.37)

Entrez gene

10767

UniProt

Q9Y450 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y450

Antibodypedia

HBS1L antibodies
 

PROTEIN VIEW

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 « 
 
HBS1L-001
 
HBS1L-003
 
HBS1L-004
 
HBS1L-006
 
HBS1L-007
 
HBS1L-008
 
HBS1L-009
 
HBS1L-010
 
HBS1L-011
 
HBS1L-012
 
HBS1L-013
 
HBS1L-014
 
HBS1L-015
 
HBS1L-016
 
HBS1L-017
 
HBS1L-201
 
HBS1L-202
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HBS1L-001 ENSP00000356811
ENST00000367837
Q9Y450
Show all »
Show » 684 75.5 No 0
HBS1L-003 ENSP00000323566
ENST00000314674
E9PLR4
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215 24.2 No 0
HBS1L-004 ENSP00000356796
ENST00000367822
Q9Y450
Show all »
Show » 632 70.1 No 0
HBS1L-006 ENSP00000356800
ENST00000367826
Q9Y450
Show all »
Show » 642 70.6 No 0
HBS1L-007 ENSP00000389826
ENST00000415177
J3QT46
Show all »
Show » 619 68.3 No 0
HBS1L-008 ENSP00000433161
ENST00000526100
74 8.2 No 0
HBS1L-009 ENSP00000434533
ENST00000533274
H0YDX7
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Show » 554 60.6 No 0
HBS1L-010 ENSP00000436256
ENST00000527578
B7Z524
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Show » 520 57 No 0
HBS1L-011 ENSP00000433030
ENST00000529882
E9PMN1
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168 19.2 No 0
HBS1L-012 ENSP00000435608
ENST00000525067
E9PJ90
Show all »
Show » 118 13.5 No 1
HBS1L-013 ENSP00000434855
ENST00000524715
E9PN23
Show all »
141 15.9 No 0
HBS1L-014 ENSP00000356794
ENST00000367820
G5E991
Show all »
147 16.7 No 0
HBS1L-015 ENSP00000432092
ENST00000527507
E9PS53
Show all »
Show » 142 15.3 No 0
HBS1L-016 ENSP00000436620
ENST00000529641
E9PHZ9
Show all »
Show » Show » 243 26.1 No 0
HBS1L-017 ENSP00000436472
ENST00000529169
Show » 170 18.6 No 0
HBS1L-201 ENSP00000356798
ENST00000367824
B7Z524
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Show » 520 57 No 0
HBS1L-202 ENSP00000415305
ENST00000445176
B7Z1K2
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Show » 408 45.1 No 0